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A Mal De Meleda patient with severe flexion contractures of hands and feet: A case report in West China
Yun Pan1, Hengguang Zhao, Aijun Chen
1Department of Dermatology, The First Affiliated Hospital of Chongqing Medical University Department of Traditional Chinese Medicine, Chongqing Medical University, Chongqing, China.
Rationale:
Palmoplantar keratoderma (PPK) is a genetically heterogeneous group of skin diseases, which is characterized by erythema and hyperkeratosis. Mal de Meleda (MDM) is a rare type of PPK with an estimated prevalence in the general population of 1 in 100,000.
Patient Concerns:
In this study, we report a MDM patient with severe lesion in skin and flexion contractures of fingers and toes.
Diagnoses:
MDM was diagnosed based on clinical manifestations and gene test.
Interventions:
This patient was treated with oral acitretin and topical tazarotene.
Outcomes:
Physical examinations indicated that the hyperkeratosis was in remission, but the erythema was expanding to her elbows progressively. Due to the adverse events (e.g., dry eyes and lips), the patient stopped taking the oral drug.
Lessons:
MDM is a rare subtype of PPK, which is inherited in an autosomal recessive pattern and has characteristics that skin lesions on hands and feet appear soon after birth and develop progressively. MDM can lead to severe flexion contractures in some cases. The reliable method for the diagnosis of MDM is gene test.
Insights
Mal de Meleda (MDM), a rare palmoplantar keratoderma (PPK), presents with skin lesions and contractures. Gene testing is crucial for diagnosis, with treatment options like acitretin showing mixed results.
Area of Science:
- Dermatology
- Medical Genetics
Background:
- Palmoplantar keratoderma (PPK) encompasses genetically diverse skin conditions marked by erythema and hyperkeratosis.
- Mal de Meleda (MDM) is an exceptionally rare PPK subtype, affecting approximately 1 in 100,000 individuals.
Observation:
- A case of MDM is presented, featuring severe skin lesions and digital flexion contractures.
- The patient exhibited progressive erythema beyond the initial hand and foot lesions.
Findings:
- Treatment with oral acitretin and topical tazarotene led to hyperkeratosis remission but not erythema control.
- Adverse events, including dry eyes and lips, necessitated discontinuation of oral acitretin.
Implications:
- MDM is an autosomal recessive disorder causing progressive skin lesions and potential contractures, requiring accurate genetic diagnosis.
- Treatment strategies for MDM may need to balance efficacy with managing adverse events.